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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-1615797-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1615797&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1615797,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000262965.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Ala492Val",
"transcript": "NM_003200.5",
"protein_id": "NP_003191.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 654,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": "ENST00000262965.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Ala492Val",
"transcript": "ENST00000262965.12",
"protein_id": "ENSP00000262965.5",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 654,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": "NM_003200.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Ala492Val",
"transcript": "NM_001136139.4",
"protein_id": "NP_001129611.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 651,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": "ENST00000588136.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Ala492Val",
"transcript": "ENST00000588136.7",
"protein_id": "ENSP00000468487.1",
"transcript_support_level": 2,
"aa_start": 492,
"aa_end": null,
"aa_length": 651,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": "NM_001136139.4",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.833C>T",
"hgvs_p": null,
"transcript": "ENST00000610756.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"transcript": "ENST00000453954.6",
"protein_id": "ENSP00000396363.3",
"transcript_support_level": 5,
"aa_start": 521,
"aa_end": null,
"aa_length": 679,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Ala441Val",
"transcript": "ENST00000395423.7",
"protein_id": "ENSP00000378813.3",
"transcript_support_level": 5,
"aa_start": 441,
"aa_end": null,
"aa_length": 658,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ala491Val",
"transcript": "NM_001351778.2",
"protein_id": "NP_001338707.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 653,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Ala492Val",
"transcript": "NM_001351779.2",
"protein_id": "NP_001338708.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 651,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Ala154Val",
"transcript": "ENST00000590436.5",
"protein_id": "ENSP00000466952.2",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 313,
"cds_start": 461,
"cds_end": null,
"cds_length": 942,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ala60Val",
"transcript": "ENST00000590684.5",
"protein_id": "ENSP00000466565.2",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 219,
"cds_start": 179,
"cds_end": null,
"cds_length": 660,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ala41Val",
"transcript": "ENST00000593064.5",
"protein_id": "ENSP00000468481.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 203,
"cds_start": 122,
"cds_end": null,
"cds_length": 612,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"transcript": "ENST00000592628.5",
"protein_id": "ENSP00000465549.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 179,
"cds_start": 50,
"cds_end": null,
"cds_length": 540,
"cdna_start": 50,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000587425.5",
"protein_id": "ENSP00000467508.2",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 165,
"cds_start": 8,
"cds_end": null,
"cds_length": 498,
"cdna_start": 8,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.2C>T",
"hgvs_p": "p.Ala1Val",
"transcript": "ENST00000585731.5",
"protein_id": "ENSP00000465510.2",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 159,
"cds_start": 2,
"cds_end": null,
"cds_length": 480,
"cdna_start": 2,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"transcript": "XM_047439258.1",
"protein_id": "XP_047295214.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 683,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"transcript": "XM_047439259.1",
"protein_id": "XP_047295215.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 683,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"transcript": "XM_047439260.1",
"protein_id": "XP_047295216.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 683,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"transcript": "XM_047439261.1",
"protein_id": "XP_047295217.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 682,
"cds_start": 1559,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 4485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"transcript": "XM_006722855.5",
"protein_id": "XP_006722918.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 680,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"transcript": "XM_017027178.2",
"protein_id": "XP_016882667.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 680,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"transcript": "XM_047439262.1",
"protein_id": "XP_047295218.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 680,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Ala492Val",
"transcript": "XM_017027181.2",
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"alphamissense_score": 0.0805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.131,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000262965.12",
"gene_symbol": "TCF3",
"hgnc_id": 11633,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Ala492Val"
}
],
"clinvar_disease": " unclassifiable,Myeloproliferative neoplasm,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 B:3",
"phenotype_combined": "Myeloproliferative neoplasm, unclassifiable|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}